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Noonan Syndrome
Turner Syndrome, Male | Turner' | s Syndrome, Male | Male Turner Syndrome | Male Turner' | s Syndrome | Turners Syndrome, Male
A multifaceted disorder that is characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of MENTAL RETARDATION. The phenotype resembles that of TURNER SYNDROME; however, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). Nevertheless, familial studies suggest that the trait is inherited as an autosomal dominant. |
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